A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family

PURPOSE: The paired box gene 6 (PAX6) on human chromosome 11p13 is an essential transcription factor for eye formation in animals. Mutations in PAX6 can lead to varieties of autosomal-dominant ocular malformations with aniridia as the major clinical signs. Known genetic alterations causing haplo-ins...

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Detalles Bibliográficos
Autores principales: Cheng, Fang, Song, Wulian, Kang, Yang, Yu, Shihui, Yuan, Huiping
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3038207/
https://www.ncbi.nlm.nih.gov/pubmed/21321669

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3038207/
https://www.ncbi.nlm.nih.gov/pubmed/21321669

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